Fragile X:
Fragile X Syndrome is a genetic condition that affects certain parts of the body and the brain. The disorder is caused by a lengthened genetic mutation on the FMR1 chromosome. When the gene grows longer, it shuts off certain proteins needed for the brain to develop fully and other functions.Usually, males are more affected by this disorder then females. Humans with this disorder may need special support and assistance with daily tasks (1).
Fragile X Syndrome is a genetic condition that affects certain parts of the body and the brain. The disorder is caused by a lengthened genetic mutation on the FMR1 chromosome. When the gene grows longer, it shuts off certain proteins needed for the brain to develop fully and other functions.Usually, males are more affected by this disorder then females. Humans with this disorder may need special support and assistance with daily tasks (1).
People may experience,
Behavior: Aggressive hyperactivity, impassivity, impulse control issues, repeating movements, and self-harm.
Development: Learning disability or delayed speech.
Muscular: Flaccid muscle and or issues with coordination and concentration
Also common: Larger ears, lack of speech, anxiety, depression, double jointed, enlarge head, testicles that are larger than average, flat feet, lazy eyes, long, slim face.
Genetics: Fragile X caused by a dominant allele, the gene that causes the disorder is located in the X chromosome, one of the two sex chromosome (3). Fragile X syndrome causes a deficiency of protein, three are four type of general [[#|calories]], for repeats normal, intermediate, permutation, full ,mutation, this allele has 5 to 45 egg repeats.
Distribution: Research done shows that in western European countries and, the Chinese cultures, they have the most common because in china there is more population, and there is not that technology to find out if someone has that problem, and they can't diagnostics that. The reason why Americans can figure it out, what they have or how did they have it, is only because of technology that they have.
Management and Treatment: Medication therapy may only help certain individuals, with certain struggles and should have be prescribed, only by a professional, there is no medication specifically for curing Fragile X syndrome. Some victims who have a severe case of Fragile X can not be treated.
Miscellaneous: Mary Jane Clark who is a famous a mystery and suspense novel writer had a son named David born with Fragile X syndrome (5). Also Chris Benito who was a famous wrestler had a son born with Fragile X (4).
Society, Culture, and History: In 1943, Martin and Bell illustrated signs of cognitive disabilities which later was known as Fragile X. Then in 1969, Herbert Lubs discovered the chromosomal test for Fragile X. The test was not used a ton until the late 1970's when more cases were discovered. Finally in 1991, more [[#|symptoms]] of the disorder were discovered and it was noticed by the public (2). Fragile X can also be known as Martin-Bell syndrome or FXS.
Further Research: The Fragile X Clinical and research consortium was created in 2006 by national Fragile X foundation, in response of growing needs of families whose member have on of the three identified Fragile X conditions. Fragile X syndrome associated tremor/ataxia syndrome and Fragile X associated primary ovarian insufficiently. Each clinic is staffed by acknowledgement specialist experienced the evaluation and treatment of all the conditions.
Reference:
2.© Copyright 2010 Friends For Fragile X
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Copyright 2017 National Fragile X Foundation
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